Infantile myofibromatosis

Gopal, Milan; Chahal, Gurdip; Al-Rifai, Ziad; Eradi, Bala; Ninan, George; Nour, S

doi:10.1007/s00383-007-2091-7

Cited by 49 publications

(48 citation statements)

References 16 publications

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“…(1) Development of the disease in infancy (\2 years) in the majority of patients (89%), with many present at birth (54%); (2) The majority of cases presenting as solitary (74%) versus multicentric (26%) disease; (3) The solitary form was more common in males and involved the skin and soft tissues of the head, neck, and trunk; (4) The multicentric form seemed to affect females more frequently, but developed in bone, viscera, and soft tissues; (5) The tumor cells were intermediate between fibroblasts and smooth-muscle cells, presenting a biphasic appearance in different parts of the same tumor; (6) The vast majority of patients were alive without evidence of disease, although patients with visceral involvement were more likely to die from disease [1,2,12].…”

Section: Definition and Nomenclaturementioning

confidence: 99%

“…Infantile myofibroma is a nonencapsulated, nonmetastasizing, locally infiltrative lesion, considered to be part of the fibrous proliferations of infancy. This lesion has been referred to by numerous other names, including congenital generalized fibromatosis, congenital multiple fibromatosis, multiple mesenchymal hamartomas, diffuse congenital fibromatosis, and multiple vascular leiomyomas of the newborn, among others [1,2]. Specifically, infantile myofibroma is a single lesion, while infantile myofibromatosis is used for multiple lesions or multifocal disease.…”

Section: Introductionmentioning

confidence: 95%

“…While fibromatoses [3] may occur in any region of the body, many occur in the head and neck, usually involving the superficial soft tissues. Within the head and neck, infantile myofibromatosis, although a very rare lesion, seems to show a tendency to develop around the orbit [1][2][3][4][5][6][7] in the few cases reported in the English literature [4][5][6][7][8][9][10][11][12][13][14][15][16][17][18]. The rarity of this tumor poses a diagnostic challenge that may lead to a misdiagnosis and subsequent inappropriate patient management.…”

Section: Introductionmentioning

confidence: 99%

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Orbital Infantile Myofibroma: a Case Report and Clinicopathologic Review of 24 Cases from the Literature

Mynatt

Feldman²,

Thompson

2011

Head and Neck Pathol

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Isolated orbital infantile myofibroma are rare tumors in the head and neck. The mass-like clinical presentation and variable histologic features result in frequent misdiagnosis and potentially inappropriate clinical management. There are only a few reported cases in the English literature. Twenty-four patients with orbital infantile myofibroma or myofibromatosis were compiled from the English literature (Medline 1960-2011) and integrated with this case report. The patients included 14 males and 10 females, aged newborn to 10 years (mean, 34.8 months), who presented with a painless mass in the infra- or supraorbital regions, usually increasing in size andassociated with exophthalmos (n = 5). Females were on average older than their male counterparts (38.9 vs. 31.9 months, respectively; P = 0.71). The tumors were twice as frequent on the left (n = 16) than right (n = 8). Patients experienced symptoms for an average of 2.7 months before clinical presentation. The tumors involved the bone (n = 17) or the soft tissues (n = 7) of the orbit, with extension into the nasal or oral cavity (n = 3). The mean size was 3.0 cm, with a statistically significant difference between males and females (mean: 3.9 vs. 1.82; P = 0.0047), but without any differences based on age at presentation (P = 0.25), duration of symptoms (P = 0.66), or bone or soft tissue involvement (P = 0.51). Grossly, all tumors were well-circumscribed, firm to rubbery, homogenous, and white-grey. Histologically, the tumors were biphasic, showing whorled and nodular areas of fusiform cells with extracellular collagen, mixed with a population of small, primitive-appearing, darkly staining cells. Necrosis was not present, but mitoses could be seen. Tumors with immunohistochemistry performed showed strong and diffuse smooth muscle actin and vimentin immunoreactivity, but were negative with muscle specific actin, desmin, MYOD1, myogenin, S100 protein, GFAP, keratin, CD31, 34, Factor VIIIR-Ag, and CD45RB. The principle histologic differential diagnosis includes juvenile hyaline fibromatosis, fibrous hamartoma of infancy, fibromatosis coli, leiomyoma, infantile hemangiopericytoma, infantile fibrosarcoma, Ewing sarcoma/primitive neuroectodermal tumor, and lymphoma. All patients were managed with surgery. Recurrences developed in two patients at 4 and 6 months, respectively. Follow-up data was available on all but two patients (n = 22). These patients were either alive without evidence of disease (n = 18), alive but with disease (n = 3), or had died unrelated to this disease (i.e., neuroblastoma, n = 1). Orbital infantile myofibroma is a rare tumor, presenting in infancy as an enlarging mass of the orbit, with characteristic histomorphologic and immunophenotypic features. Orbital disease is usually isolated rather than part of systemic disease, and shows an excellent long-term prognosis, making appropriate separation from other conditions important.

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Section: Definition and Nomenclaturementioning

confidence: 99%

Section: Introductionmentioning

confidence: 95%

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

Orbital Infantile Myofibroma: a Case Report and Clinicopathologic Review of 24 Cases from the Literature

Mynatt

Feldman²,

Thompson

2011

Head and Neck Pathol

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“…Myofibromatosis is the most common fibrous tumor of infancy or childhood, often misdiagnosed due to its variable clinical and imaging characteristics; the differential diagnosis includes metastatic neuroblastoma, rhabdomyosarcoma, histiocytosis X or hemangiopericytoma (1)(2)(3). Examination of a pathological specimen is mandatory for ruling out malignancies that may require different management (4).…”

Section: Introductionmentioning

confidence: 99%

Whole-body magnetic resonance imaging in the diagnosis and follow-up of multicentric infantile myofibromatosis: A case report

Salerno

Terranova

Rossello

et al. 2017

Molecular and Clinical Oncology

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Myofibromatosis is an uncommon disorder of infancy, characterized by proliferation of myofibroblasts in solitary or multiple nodules. The clinical characteristics depend on the involved sites: Myofibromatosis may develop as a musculoskeletal form, with non-painful swellings and eventual mass effect symptoms, or as a generalized form with visceral involvement and organ failure. Prognosis and therapy vary between the abovementioned patterns. When there is no visceral involvement, the tumors may regress spontaneously; however, the visceral form may represent a lifethreatening condition with poor outcome and it requires aggressive management. Imaging assessment of disease spread is mandatory to determine diagnosis, prognosis and therapy. Due to the young age of the patients, a radiation-free evaluation is recommended. We herein describe a case of musculoskeletal myofibromatosis diagnosed in a 3-month-old male infant, investigated by serial wholebody magnetic resonance imaging (MRI) examination. The histological analysis and MRI characteristics enabled a correct diagnosis and organ involvement assessment with no radiation exposure. Moreover, whole-body MRI sequences provided a detailed evaluation of the disease within a short time frame, reducing the time of sedation, which is required to perform MRI in very young patients. Therefore, whole-body MRI was found to be accurate and safe in the diagnosis and follow-up of multicentric infantile myofibromatosis

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“…It is characterized by the formation of tumors in the skin, muscle, viscera, bones and subcutaneous tissue. After the first description by Stout in 1954 (3), who gave the name of congenital generalized fibromatosis, 3 types of IM have been categorized: solitary, multicenter without visceral involvement, multicenter with visceral involvement (4). The solitary form represents 60% of the IM and only 5% are localized in bone affecting in most of these cases the craniofacial bones (2,5,6).…”

Section: Introductionmentioning

confidence: 99%